A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3366545



Internal ID14866805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3590654..3592752hg38UCSC Ensembl
Innerchr19:3591654..3591752hg38UCSC Ensembl
Outerchr19:3589654..3593752hg38UCSC Ensembl
chr19:3590652..3592750hg19UCSC Ensembl
Innerchr19:3591652..3591750hg19UCSC Ensembl
Outerchr19:3589652..3593750hg19UCSC Ensembl
chr19:3541652..3543750hg18UCSC Ensembl
Innerchr19:3542652..3542750hg18UCSC Ensembl
Outerchr19:3540652..3544750hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691500
SamplesNA19239
Known GenesGIPC3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3366545
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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